| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.188996436_189001956del | CA916081383 | COL3A1 | c.1602_2293-342del c.1701_2392-342del | ClinVar |
| 2 | g.188999894_189002903del | CA2740096382 | COL3A1 | c.2183_2347-52del c.2282_2446-52del | ClinVar |
| 2 | g.188999894_189002899del | CA2740096383 | COL3A1 | c.2183_2347-56del c.2282_2446-56del | ClinVar |
| 2 | g.189000730_189007456del | CA913190215 | COL3A1 | c.2185-667_3157-44del c.2284-667_3256-44del c.2284-667_2528-598del | ClinVar |
| 2 | g.189001289_189008107del | CA913190216 | COL3A1 | c.2185-108_3391del c.2284-108_3490del c.2284-108_2581del | ClinVar |
| 2 | g.189001454A= | CA1315401870 | COL3A1 | c.2238+4A= (n.2238+4A=) c.2337+4A= (n.2337+4A=) | |
| 2 | g.189001454A>G | CA075218 | COL3A1 | c.2238+4A>G (n.2238+4A>G) c.2337+4A>G (n.2337+4A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.189001455C>T | CA2662309366 | COL3A1 | c.2238+5C>T (n.2238+5C>T) c.2337+5C>T (n.2337+5C>T) | gnomAD v4 |
| 2 | g.189001456C>A | CA538448789 | COL3A1 | c.2238+6C>A (n.2238+6C>A) c.2337+6C>A (n.2337+6C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189001456C= | CA1315401871 | COL3A1 | c.2238+6C= (n.2238+6C=) c.2337+6C= (n.2337+6C=) | |
| 2 | g.189001456C>T | CA2662309367 | COL3A1 | c.2238+6C>T (n.2238+6C>T) c.2337+6C>T (n.2337+6C>T) | gnomAD v4 |
| 2 | g.189001457C>A | CA16610550 | COL3A1 | c.2238+7C>A (n.2238+7C>A) c.2337+7C>A (n.2337+7C>A) | ClinVar dbSNP gnomAD v4 |
| 2 | g.189001457C= | CA1315401872 | COL3A1 | c.2238+7C= (n.2238+7C=) c.2337+7C= (n.2337+7C=) | |
| 2 | g.189001461A= | CA1315401873 | COL3A1 | c.2238+11A= (n.2238+11A=) c.2337+11A= (n.2337+11A=) | |
| 2 | g.189001461A>C | CA075205 | COL3A1 | c.2238+11A>C (n.2238+11A>C) c.2337+11A>C (n.2337+11A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189001465_189001467del | CA2577185693 | COL3A1 | c.2238+15_2238+17del (n.2238+15_2238+17del) c.2337+15_2337+17del (n.2337+15_2337+17del) | |
| 2 | g.189001463A= | CA1315401874 | COL3A1 | c.2238+13A= (n.2238+13A=) c.2337+13A= (n.2337+13A=) | |
| 2 | g.189001463A>C | CA075206 | COL3A1 | c.2238+13A>C (n.2238+13A>C) c.2337+13A>C (n.2337+13A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.189001463A>G | CA1040410543 | COL3A1 | c.2238+13A>G (n.2238+13A>G) c.2337+13A>G (n.2337+13A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.189001464C>A | CA2662309368 | COL3A1 | c.2238+14C>A (n.2238+14C>A) c.2337+14C>A (n.2337+14C>A) | gnomAD v4 |
| 2 | g.189001464C= | CA1315401875 | COL3A1 | c.2238+14C= (n.2238+14C=) c.2337+14C= (n.2337+14C=) | |
| 2 | g.189001464C>G | CA538448790 | COL3A1 | c.2238+14C>G (n.2238+14C>G) c.2337+14C>G (n.2337+14C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189001465T>C | CA2523645401 | COL3A1 | c.2238+15T>C (n.2238+15T>C) c.2337+15T>C (n.2337+15T>C) | ClinVar gnomAD v4 |
| 2 | g.189001466A= | CA1315401876 | COL3A1 | c.2238+16A= (n.2238+16A=) c.2337+16A= (n.2337+16A=) | |
| 2 | g.189001466A>G | CA075209 | COL3A1 | c.2238+16A>G (n.2238+16A>G) c.2337+16A>G (n.2337+16A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189001467C>T | CA2662309369 | COL3A1 | c.2238+17C>T (n.2238+17C>T) c.2337+17C>T (n.2337+17C>T) | dbSNP gnomAD v4 |
| 2 | g.189001468C>A | CA1315401878 | COL3A1 | c.2238+18C>A (n.2238+18C>A) c.2337+18C>A (n.2337+18C>A) | dbSNP |
| 2 | g.189001468C= | CA1315401877 | COL3A1 | c.2238+18C= (n.2238+18C=) c.2337+18C= (n.2337+18C=) | |
| 2 | g.189001468C>G | CA1315401879 | COL3A1 | c.2238+18C>G (n.2238+18C>G) c.2337+18C>G (n.2337+18C>G) | dbSNP gnomAD v4 |
| 2 | g.189001469T>A | CA647397741 | COL3A1 | c.2238+19T>A (n.2238+19T>A) c.2337+19T>A (n.2337+19T>A) | COSMIC |
| 2 | g.189001469T>G | CA538448791 | COL3A1 | c.2238+19T>G (n.2238+19T>G) c.2337+19T>G (n.2337+19T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189001469T= | CA1315401880 | COL3A1 | c.2238+19T= (n.2238+19T=) c.2337+19T= (n.2337+19T=) | |
| 2 | g.189001472A>G | CA2525986959 | COL3A1 | c.2238+22A>G (n.2238+22A>G) c.2337+22A>G (n.2337+22A>G) | |
| 2 | g.189001473T>A | CA075212 | COL3A1 | c.2238+23T>A (n.2238+23T>A) c.2337+23T>A (n.2337+23T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189001473T>C | CA1315401883 | COL3A1 | c.2238+23T>C (n.2238+23T>C) c.2337+23T>C (n.2337+23T>C) | dbSNP |
| 2 | g.189001473T>G | CA1315401881 | COL3A1 | c.2238+23T>G (n.2238+23T>G) c.2337+23T>G (n.2337+23T>G) | dbSNP gnomAD v4 |
| 2 | g.189001473T= | CA1315401882 | COL3A1 | c.2238+23T= (n.2238+23T=) c.2337+23T= (n.2337+23T=) | |
| 2 | g.189001474A= | CA1315401884 | COL3A1 | c.2238+24A= (n.2238+24A=) c.2337+24A= (n.2337+24A=) | |
| 2 | g.189001474A>G | CA2662309370 | COL3A1 | c.2238+24A>G (n.2238+24A>G) c.2337+24A>G (n.2337+24A>G) | gnomAD v4 |
| 2 | g.189001474A>T | CA430310961 | COL3A1 | c.2238+24A>T (n.2238+24A>T) c.2337+24A>T (n.2337+24A>T) | dbSNP gnomAD v4 |
| 2 | g.189001476A= | CA1315401885 | COL3A1 | c.2238+26A= (n.2238+26A=) c.2337+26A= (n.2337+26A=) | |
| 2 | g.189001476A>G | CA075213 | COL3A1 | c.2238+26A>G (n.2238+26A>G) c.2337+26A>G (n.2337+26A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189001477A= | CA1315401886 | COL3A1 | c.2238+27A= (n.2238+27A=) c.2337+27A= (n.2337+27A=) | |
| 2 | g.189001477A>T | CA1315401887 | COL3A1 | c.2238+27A>T (n.2238+27A>T) c.2337+27A>T (n.2337+27A>T) | dbSNP |
| 2 | g.189001479A= | CA1315401889 | COL3A1 | c.2238+29A= (n.2238+29A=) c.2337+29A= (n.2337+29A=) | |
| 2 | g.189001479A>G | CA1315401888 | COL3A1 | c.2238+29A>G (n.2238+29A>G) c.2337+29A>G (n.2337+29A>G) | dbSNP gnomAD v4 |
| 2 | g.189001482A>G | CA2662309371 | COL3A1 | c.2238+32A>G (n.2238+32A>G) c.2337+32A>G (n.2337+32A>G) | gnomAD v4 |
| 2 | g.189001485A= | CA1315401890 | COL3A1 | c.2238+35A= (n.2238+35A=) c.2337+35A= (n.2337+35A=) | |
| 2 | g.189001485A>G | CA1315401891 | COL3A1 | c.2238+35A>G (n.2238+35A>G) c.2337+35A>G (n.2337+35A>G) | dbSNP |
| 2 | g.189001487G>A | CA075215 | COL3A1 | c.2238+37G>A (n.2238+37G>A) c.2337+37G>A (n.2337+37G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |